THE CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME - LAMELLAR LIPID PROFILES IN ADRENOCORTICAL, HEPATIC MESENCHYMAL, ASTROCYTE CELLS AND INCREASED LEVELS OF VERY LONG-CHAIN FATTY-ACIDS AND PHYTANIC ACID IN THE PLASMA

Clinical, radiological, histological and biochemical aspects of 2 cases of cerebro-hepato-renal syndrome (CHRS) are reported. CT [computed tomography] scan disclosed a demyelinating process and gyral abnormalities reflecting the observed neuropathological findings. Trilamellar and lamellar inclusions were found in brain astrocytes, hepatic mesenchymal and adrenal cels. The morphologic features of these inclusions are similar to those observed in childhood adrenoleukodystrophy, neonatal adrenoleukodystrophy and infantile Refsum''s disease. In the 2 CHRS patients, increased plasma levels of very long chain fatty acids (C26:1, C26:0) and phytanic acid were in the same range as those observed in 7 other instances of neonatal adrenoleukodystrophy. The presence of increased plasma levels of phytanic acid in these disorders suggests that phytanate oxidase activity is, at least, partially located in peroxisomes.